Variant report

Variant	rs10216983
Chromosome Location	chr8:125983513-125983514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:125983460-125983610	AG04450	lung:	n/a	n/a
2	CTCF	chr8:125983460-125983610	HMF	breast:	n/a	n/a
3	CTCF	chr8:125983440-125983590	HPF	lung:	n/a	n/a
4	MAFK	chr8:125983171-125983513	HepG2	liver:	n/a	n/a
5	CTCF	chr8:125983400-125983550	HMEC	breast:	n/a	n/a
6	CTCF	chr8:125983380-125983530	MCF-7	breast:	n/a	n/a
7	CTCF	chr8:125983460-125983610	BJ	skin:	n/a	n/a
8	CTCF	chr8:125983400-125983550	K562	blood:	n/a	n/a
9	CTCF	chr8:125983400-125983550	HVMF	connective:	n/a	n/a
10	CTCF	chr8:125983440-125983590	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr8:125983480-125983630	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr8:125983432-125983611	K562	blood:	n/a	n/a
13	CTCF	chr8:125983380-125983530	AG10803	skin:	n/a	n/a
14	CTCF	chr8:125983500-125983650	HCFaa	heart:	n/a	n/a
15	CTCF	chr8:125983460-125983610	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr8:125983440-125983590	GM12864	blood:	n/a	n/a
17	CEBPB	chr8:125983332-125983699	MCF-7	breast:	n/a	chr8:125983576-125983587
18	CTCF	chr8:125983400-125983550	AG10803	skin:	n/a	n/a
19	CTCF	chr8:125983380-125983530	SAEC	small airway:	n/a	n/a
20	CTCF	chr8:125983440-125983590	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr8:125983420-125983570	HCM	heart:	n/a	n/a
22	CTCF	chr8:125983440-125983590	GM12874	blood:	n/a	n/a
23	CTCF	chr8:125983400-125983550	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr8:125983400-125983550	HepG2	liver:	n/a	n/a
25	CTCF	chr8:125983440-125983590	GM12865	blood:	n/a	n/a
26	CTCF	chr8:125983480-125983630	BE2_C	brain:	n/a	n/a
27	CTCF	chr8:125983480-125983630	Caco-2	colon:	n/a	n/a
28	CEBPB	chr8:125983441-125983724	K562	blood:	n/a	chr8:125983576-125983587
29	CTCF	chr8:125983440-125983590	HEK293	kidney:	n/a	n/a
30	CTCF	chr8:125983400-125983550	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr8:125983420-125983570	NHEK	skin:	n/a	n/a
32	CTCF	chr8:125983460-125983610	AG09309	skin:	n/a	n/a
33	CTCF	chr8:125983460-125983610	BE2_C	brain:	n/a	n/a
34	CTCF	chr8:125983400-125983550	RPTEC	kidney:	n/a	n/a
35	CTCF	chr8:125983440-125983590	HMF	breast:	n/a	n/a
36	CTCF	chr8:125983460-125983610	NHEK	skin:	n/a	n/a
37	CEBPB	chr8:125983404-125983738	HepG2	liver:	n/a	chr8:125983576-125983587
38	CTCF	chr8:125983420-125983570	GM12873	blood:	n/a	n/a
39	CTCF	chr8:125983440-125983590	HepG2	liver:	n/a	n/a
40	CTCF	chr8:125983460-125983610	HCT-116	colon:	n/a	n/a
41	CTCF	chr8:125983420-125983570	GM12872	blood:	n/a	n/a
42	CTCF	chr8:125983480-125983630	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr8:125983400-125983550	A549	lung:	n/a	n/a
44	CTCF	chr8:125983420-125983570	GM12871	blood:	n/a	n/a
45	CTCF	chr8:125983440-125983590	GM12866	blood:	n/a	n/a
46	CTCF	chr8:125983440-125983590	MCF-7	breast:	n/a	n/a
47	CTCF	chr8:125983479-125983525	K562	blood:	n/a	n/a
48	CTCF	chr8:125983380-125983530	GM12873	blood:	n/a	n/a
49	CTCF	chr8:125983380-125983530	HPF	lung:	n/a	n/a
50	MAFK	chr8:125983162-125983538	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125485603..125487228-chr8:125983400..125985539,2	K562	blood:
2	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
3	chr8:125982086..125986890-chr8:126008872..126013713,7	MCF-7	breast:
4	chr8:125541023..125542526-chr8:125981975..125984707,2	MCF-7	breast:
5	chr8:125928423..125931250-chr8:125983352..125985484,3	MCF-7	breast:
6	chr8:125874240..125876735-chr8:125982573..125984700,2	MCF-7	breast:
7	chr8:125550160..125552842-chr8:125982505..125985258,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF572	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10095831	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10104558	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[EUR][1000 genomes]
rs10105106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105727	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10107103	1.00[CEU][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10107456	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10107535	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10107774	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10110658	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10113187	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10113526	0.82[EUR][1000 genomes]
rs10481077	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs10481078	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs12334469	0.94[EUR][1000 genomes]
rs12335277	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373620	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28426979	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28478462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28483573	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28499344	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28537766	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28612361	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28654092	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28656968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28684823	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28705718	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28711324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28714194	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28808359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28813511	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28816450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28828449	0.88[EUR][1000 genomes]
rs28829886	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28869565	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34299285	0.90[AFR][1000 genomes]
rs3853255	0.84[ASW][hapmap];0.96[LWK][hapmap];0.94[MKK][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes]
rs6987181	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6987278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6990024	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6994686	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs6995007	0.96[AFR][1000 genomes]
rs7003311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7007356	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7012488	0.84[AFR][1000 genomes]
rs73704505	0.96[AFR][1000 genomes]
rs73706181	1.00[EUR][1000 genomes]
rs73706182	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73706183	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73706184	0.88[EUR][1000 genomes]
rs73706186	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73706188	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73706190	0.88[EUR][1000 genomes]
rs73706192	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707910	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707911	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707912	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707913	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707915	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707916	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707917	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707918	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707923	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73707924	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7812303	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7815271	0.98[AFR][1000 genomes]
rs7828622	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7829785	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7830483	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7830592	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9297705	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9297706	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125969800-125985000	Weak transcription	Right Atrium	heart
2	chr8:125977400-125985400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:125977600-125985200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:125977600-125985600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:125979600-125985200	Weak transcription	Fetal Heart	heart
6	chr8:125979800-125985400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:125982000-125984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:125982600-125985200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:125982800-125984800	Weak transcription	HepG2	liver
10	chr8:125982800-125985000	Weak transcription	Placenta	Placenta
11	chr8:125983000-125985200	Weak transcription	K562	blood

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